Linked Data
ClinVar Variation Id:
165521
dbSNP Id:
rs374618872
ExAC:
19:55666177 C / T
gnomAD v2:
19-55666177-C-T
gnomAD v3:
19-55154809-C-T
gnomAD v4:
19-55154809-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154809C>T , CM000681.2:g.55154809C>T | GRCh38 |
| NC_000019.9:g.55666177C>T , CM000681.1:g.55666177C>T | GRCh37 |
| NC_000019.8:g.60357989C>T | NCBI36 |
| NG_007866.2:g.7924G>A , LRG_432:g.7924G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.304G>A MANE Select | ENSP00000341838.5:p.Ala102Thr | |
| ENST00000665070.1:c.304G>A | ENSP00000499482.1:p.Ala102Thr | |
| ENST00000344887.9:c.304G>A | ENSP00000341838.5:p.Ala102Thr | |
| ENST00000585806.5:n.303G>A | ||
| ENST00000586669.5:n.312G>A | ||
| ENST00000587176.5:n.488G>A | ||
| ENST00000587871.1:c.923G>A | ||
| ENST00000588882.1:c.229G>A | ENSP00000466729.1:p.Ala77Thr | |
| ENST00000590463.1:n.476G>A | ||
| NM_000363.4:c.304G>A , LRG_432t1:c.304G>A | NP_000354.4:p.Ala102Thr | |
| NM_000363.5:c.304G>A MANE Select | NP_000354.4:p.Ala102Thr |